|
71
|
|
|
Kinesin family member 1B |
CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1 |
Adrenal gland pheochromocytoma, Anemia, Aniridia, Capillary hemangioma of retina, Charcot-marie-tooth disease, Congestive heart failure, Cranial nerve compression, Distal amyotrophy, Episodic paroxysmal anxiety, Extra-adrenal pheochromocytoma, Ganglioneuroblastoma, Ganglioneuroma, Glomerulonephritis, Glomerulosclerosis, Hearing loss, Hemangioma, Hereditary paraganglioma-pheochromocytoma syndromes, Hereditary pheochromocytoma-paraganglioma, Horner syndrome, Hypercalcemia, Hypertension, Hypertensive retinopathy, Liver carcinoma, Multiple sclerosis, Neoplasms, Nervous system diseases, Neuroblastoma, Opsoclonus, Panic disorder, Paraganglioma of head and neck, Paroxysmal hypertension, Peripheral axonal atrophy, Pheochromocytoma, Pulsatile tinnitus, Renal artery stenosis, Renal carcinoma, Sinus tachycardia, Spinal cord compression, Vocal cord paralysisView all (24 more) |
|
72
|
|
|
Lysine demethylase 6B |
JMJD3, NEDCFSA, NEDSST |
Adenocarcinoma, Apraxia, Autism, Camptodactyly of fingers, Congenital epicanthus, Congenital pectus excavatum, Cryptorchidism, Developmental delay, Esotropia, Exotropia, Hemangioma, Hypoplasia of nipple, Mental retardation, Macrostomia, Macrotia, MalocclusionView all (1 more) |
|
73
|
|
|
KN motif and ankyrin repeat domains 1 |
ANKRD15, CPSQ2, KANK |
Basal cell neoplasm, Carcinoma, Cerebral atrophy, Cerebral palsy, Cholestasis, Esophagus neoplasm, Hereditary congenital spastic tetraplegia, Leukemia, Mental retardation, Nephrotic syndrome, Spastic quadriplegia, Uterine fibroids, Plexiform leiomyoma |
|
74
|
|
|
Katanin interacting protein |
JBTS26, KIAA0556 |
Central hypothyroidism, Cerebellar hypoplasia, Cerebellar vermis agenesis, Congenital cerebral hernia, Congenital coloboma of iris, Developmental delay, Dwarfism, Frontal bossing, Hirschsprung disease, Hydrocephalus, Isolated somatotropin deficiency, Joubert syndrome, Mental retardation, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Oral cleft, Panhypopituitarism, Penis agenesis, Polydactyly of toes, Polymicrogyria, Ptosis, Scoliosis, Situs inversus, Somatotropin deficiency, StrabismusView all (11 more) |
|
75
|
|
|
Kazrin, periplakin interacting protein |
C1orf196, KAZ |
|
|
76
|
|
|
KIAA0930 |
C22orf9, LSC3 |
|
|
77
|
|
|
KH and NYN domain containing |
KIAA0323 |
|
|
78
|
|
|
Potassium voltage-gated channel subfamily H member 4 |
BEC2, ELK1, Kv12.3 |
|
|
79
|
|
|
Lysine acetyltransferase 6B |
GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf |
Abnormal dermatoglyphic pattern, Agenesis of corpus callosum, Arthritis, Arthrogryposis multiplex congenita, Atrial septal defect, Bipolar disorder, Blepharophimosis, Blepharophimosis-mental retardation syndrome, Brachydactyly, Breast cancer, Camptodactyly of fingers, Cardiomyopathy, Colpocephaly, Congenital clubfoot, Developmental dysplasia of the hip, Congenital epicanthus, Pulmonary hypoplasia, Congenital pectus carinatum, Congenital pectus excavatum, Cryptorchidism, Developmental delay, Dwarfism, Dysarthria, Dysphagia, Gastroesophageal reflux disease, Genitopatellar syndrome, Hearing loss, High palate, Hip contracture, Hydronephrosis, Hypertrophy of clitoris, Hypogonadotropic hypogonadism, Hypoplasia of the maxilla, Hypothyroidism, Mental retardation, Juvenile arthritis, Kbg syndrome, Laryngomalacia, Cystic hygroma, Melanocytic nevus, Microcephaly, Microdontia, Micrognathism, Motor delay, Multicystic renal dysplasia, Multiple congenital anomalies, Neck webbing, Noonan syndrome, Nystagmus, Patent ductus arteriosus, Penis agenesis, Periventricular nodular heterotopia, Seronegative polyarthritis, Polyarthritis, rheumatoid factor positive, Posteriorly rotated ear, Proptosis, Ptosis, Radioulnar synostosis, Renal hypoplasia, Scoliosis, Specific learning disorder, Still disease, Strabismus, Submucosal cleft palate, Thyroid agenesis, Thyroid hypoplasia, Tongue neoplasms, Ventricular septal defect, Vesicoureteral refluxView all (54 more) |
|
80
|
|
|
Potassium voltage-gated channel subfamily E regulatory subunit 5 |
KCNE1L |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, Amme complex, Atrial fibrillation, Atrioventricular block, Brugada syndrome, Bundle branch block, Elliptocytosis, Mental retardation, Myopia, Paroxysmal ventricular fibrillation, Paroxysmal ventricular tachycardia, Patent ductus arteriosus, Renal glomerular disease, Renal insufficiency, Sick sinus syndrome, Strabismus, Supraventricular tachycardia, Trifascicular block, Ventricular fibrillationView all (4 more) |
